Y45H (p.Tyr45His) variant of SETD5 (Q9C0A6)
Y45H (p.Tyr45His) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y45H (p.Tyr45His) variant details
- p.Tyr45His
- rs1432014366
- gnomAD 3-9429955-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 20.70
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available